Cardiofaciocutaneous (CFC) syndrome is a genetic disorder that affects many body parts. It causes heart defects, facial abnormalities, skin and hair issues, intellectual disability and growth problems. The condition is often confused with Costello syndrome and Noonan syndrome. Genetic testing can identify the gene mutation for accurate diagnosis.
Cardiofaciocutaneous (CFC) syndrome is a genetic disorder that affects many body parts, especially your heart (cardio-), face (facio-), and skin and hair (cutaneous). The condition also causes developmental delays, intellectual disability and growth problems.
The condition is a type of RASopathy. RASopathies are a group of genetic conditions involving the RAS pathway, which is how your body’s cells communicate with each other.
Cardiofaciocutaneous syndrome is rare. Some reports estimate that the condition occurs in 1 of every 810,000 births. Only a few 100 cases have been reported in medical literature.
But scientists believe the number is higher. Mild cases may go undiagnosed, and CFC syndrome can be confused with other genetic conditions.
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Signs and symptoms of CFC syndrome vary widely. They can range from mild to severe, and they can affect several different body parts.
CFC syndrome usually involves your heart. Most people with the condition are born with a congenital heart defect, which may cause symptoms right away or later in life. Defects may include:
Almost everyone with this disorder has signs of CFC syndrome that affect their skin and hair, like:
The syndrome also involves abnormal facial features.
Children with this condition also may experience:
Cardiofaciocutaneous syndrome is caused by a mutation (change) to one of several genes:
These genes give your body instructions to make proteins that are important to cell communication. That communication is known as the RAS/MAPK pathway, and it’s essential to fetal development.
Some people who’ve been diagnosed with CFC syndrome don’t have one of the genetic mutations. Scientists believe that those people may have Costello syndrome or Noonan syndrome instead.
Most cases of cardiofaciocutaneous syndrome aren’t inherited. The gene mutation usually occurs spontaneously (randomly) during fetal development. Most people with the disorder have no family history of it.
Rarely, the syndrome can be passed down. When it’s inherited, it’s an autosomal dominant condition. That means you only need one copy of the mutated gene from one unaffected parent who carries the mutation.
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Cardiofaciocutaneous syndrome is sometimes discovered before birth, during prenatal ultrasound. Early signs include extra amniotic fluid (liquid surrounding the fetus) or a head and body that are larger than expected.
But most cases are diagnosed during infancy. When your baby has physical signs of the disorder, a healthcare provider may order tests like:
There’s no cure for CFC syndrome. Children with the disorder need a team of specialists, often including:
Treatments vary widely depending on individual needs, but they may include:
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Because the condition occurs randomly, there’s no way to prevent the mutation that leads to CFC syndrome.
The life expectancy for people with CFC syndrome depends on the severity of the symptoms. With proper diagnosis and treatment, many people with the condition have a normal lifespan.
If your child has CFC syndrome, consider asking your healthcare provider the following questions:
The signs and symptoms of CFC syndrome are similar to Costello syndrome and Noonan syndrome. It can be difficult to tell the three genetic conditions apart, especially in infants.
But the three disorders are caused by different genetic mutations. And unlike CFC syndrome, Costello syndrome increases a person’s chances of developing cancer.
You’ll likely have a lot of feelings when you first hear that your baby has a genetic disorder like cardiofaciocutaneous (CFC) syndrome. The journey to diagnosis can feel like a flurry of appointments — and, depending on what support your child needs, your days may always be busy. But it’s important to make time for yourself, to try to manage your stress. Look for ways to connect with other parents of children with rare conditions. There are lots of communities online, and your child’s healthcare providers may know of connections as well.
Last reviewed on 02/19/2024.
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Cleveland Clinic is a non-profit academic medical center. Advertising on our site helps support our mission. We do not endorse non-Cleveland Clinic products or services. Policy